Cernunnos deficiency

Cernunnos deficiency is a rare genetic disorder characterized by a deficiency in the Cernunnos protein, which plays a crucial role in the repair of DNA double-strand breaks. This condition is also known as XLF deficiency or NHEJ1 deficiency, named after the gene that encodes the Cernunnos protein.

Symptoms[edit | edit source]

The symptoms of Cernunnos deficiency can vary widely among affected individuals. Common symptoms include microcephaly (small head size), growth retardation, immune deficiency, and increased susceptibility to cancer. Some individuals may also have radiosensitivity, which means they are more sensitive to radiation than normal.

Causes[edit | edit source]

Cernunnos deficiency is caused by mutations in the NHEJ1 gene, which provides instructions for making the Cernunnos protein. This protein is involved in the process of non-homologous end joining (NHEJ), a method that cells use to repair DNA double-strand breaks. Mutations in the NHEJ1 gene disrupt the function of the Cernunnos protein, leading to an increased risk of DNA damage and the associated symptoms of Cernunnos deficiency.

Diagnosis[edit | edit source]

Diagnosis of Cernunnos deficiency is based on the presence of characteristic symptoms, a detailed patient history, and specialized laboratory tests. Genetic testing can confirm a diagnosis by identifying a mutation in the NHEJ1 gene.

Treatment[edit | edit source]

There is currently no cure for Cernunnos deficiency. Treatment is symptomatic and supportive, and may include regular monitoring for cancer, immune system support, and management of other symptoms as needed.

References[edit | edit source]

Cernunnos deficiency Resources
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